DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Short neck ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

B-Raf proto-oncogene, serine/threonine kinase

0.319

0.846

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	3845
Gene Symbol:	KRAS

KRAS

KRAS proto-oncogene, GTPase

0.320

0.923

7.9E-04

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

actin beta

0.325

0.923

0.99

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

fibroblast growth factor receptor 1

0.362

0.885

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	324
Gene Symbol:	APC

APC

APC regulator of WNT signaling pathway

0.373

0.962

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

HRas proto-oncogene, GTPase

0.378

0.885

8.0E-02

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

fibroblast growth factor receptor 2

0.380

0.808

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

protein tyrosine phosphatase non-receptor type 11

0.385

0.923

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

solute carrier family 2 member 1

0.388

0.808

0.99

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

patched 1

0.398

0.885

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	1312
Gene Symbol:	COMT

COMT

catechol-O-methyltransferase

0.400

0.923

1.1E-06

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	4089
Gene Symbol:	SMAD4

SMAD4

SMAD family member 4

0.401

0.808

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	4297
Gene Symbol:	KMT2A

KMT2A

lysine methyltransferase 2A

0.410

0.885

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

methyl-CpG binding protein 2

0.414

0.846

0.89

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

0.418

0.885

0.85

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	6662
Gene Symbol:	SOX9

SOX9

SRY-box transcription factor 9

0.419

0.846

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	2068
Gene Symbol:	ERCC2

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

0.420

0.846

7.1E-20

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	2778
Gene Symbol:	GNAS

GNAS

GNAS complex locus

0.420

0.885

0.68

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	6899
Gene Symbol:	TBX1

TBX1

T-box transcription factor 1

0.433

0.808

0.84

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	1302
Gene Symbol:	COL11A2

COL11A2

collagen type XI alpha 2 chain

0.435

0.846

0.70

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	4854
Gene Symbol:	NOTCH3

NOTCH3

notch receptor 3

0.435

0.808

0.41

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	3339
Gene Symbol:	HSPG2

HSPG2

heparan sulfate proteoglycan 2

0.438

0.885

1.0E-19

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

mitogen-activated protein kinase kinase 1

0.439

0.846

0.90

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	4763
Gene Symbol:	NF1

NF1

neurofibromin 1

0.440

0.885

0.90

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	4853
Gene Symbol:	NOTCH2

NOTCH2

notch receptor 2

0.441

0.808

1.00

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None